title: Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.
abstract: Aortic root and ascending aortic dilatation are indicators associated with risk of aortic dissection, which varies according to underlying etiologic associations, indexed aortic root size, and rate of progression. Typical aortic involvement is most commonly seen in syndromic cases for which there is increasing evidence that aortic aneurysm represents a spectrum of familial inheritance associated with variable genetic penetrance and phenotypic expression. Aortic root and ascending aortic dimensions should be measured routinely with echocardiography. Pharmacologic therapy may reduce the rate of progression. Timing of surgical intervention is guided by indexed aortic size and rate of change of aortic root and ascending aorta dimensions. Lifelong surveillance is recommended.
authors.affiliation: Aurora Cardiovascular Services, Aurora Sinai/Aurora St. Luke's Medical Centers, University of Wisconsin School of Medicine and Public Health, Milwaukee, WI, USA. publishing15@aurora.org
authors.forename: Timothy E
authors.initials: TE
authors.lastname: Paterick
authors.forename: Julie A
authors.initials: JA
authors.lastname: Humphries
authors.forename: Khawaja Afzal
authors.initials: KA
authors.lastname: Ammar
authors.forename: M Fuad
authors.initials: MF
authors.lastname: Jan
authors.forename: Rachel
authors.initials: R
authors.lastname: Loberg
authors.forename: Michelle
authors.initials: M
authors.lastname: Bush
authors.forename: Bijoy K
authors.initials: BK
authors.lastname: Khandheria
authors.forename: A Jamil
authors.initials: AJ
authors.lastname: Tajik
mesh_terms: D000199:Actins / Q000172:deficiency / Q000235:genetics; D001014:Aortic Aneurysm / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D017545:Aortic Aneurysm, Thoracic / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D001021:Aortic Valve / Q000002:abnormalities; D054119:Arachnodactyly / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D000082882:Bicuspid Aortic Valve Disease; D003286:Contracture / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D003937:Diagnosis, Differential; D004374:Ductus Arteriosus, Patent / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D004452:Echocardiography; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006349:Heart Valve Diseases / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D007498:Iris / Q000002:abnormalities; D054068:Livedo Reticularis / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D055947:Loeys-Dietz Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D008945:Mitral Valve Prolapse / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D009216:Myopia / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D011379:Prognosis; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
chemical_list: D000199:Actins
keywords: Aortopathy; Bentall composite graft; Bicuspid aortic valve; Familial thoracic aneurysm; Ghent diagnostic criteria; Loeys-Dietz syndrome; MASS phenotype; Marfan syndrome